Functional consequences of copy number variants in miscarriage.

ABSTRACT:

Background

The presence of unique copy number variations (CNVs) in miscarriages suggests that their integral genes have a role in maintaining early pregnancy. In our previous work, we identified 19 unique CNVs in ~40% of studied euploid miscarriages, which were predominantly familial in origin. In our current work, we assessed their relevance to miscarriage by expression analysis of 14 genes integral to CNVs in available miscarriage chorionic villi. As familial CNVs could cause miscarriage due to imprinting effect, we investigated the allelic expression of one of the genes (TIMP2) previously suggested to be maternally expressed in placenta and involved in placental remodelling and embryo development.

Results

Six out of fourteen genes had detectable expression in villi and fo

SUBMITTER: Wen J 

PROVIDER: S-EPMC4324423 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature